Vogel W, Braunsteiner T, Dietze O, Braunsteiner H
Universitätsklinik für Innere Medizin, Universität Innsbruck.
Acta Med Austriaca. 1990;17(5):100-3.
Alpha-1-antitrypsin deficiency (A1ATD) is one of the most common lethal hereditary disorders. Approximately 5 to 10% of the general population carry an "at risk" gene for the development of liver disease or emphysema of the lung. Patients with A1ATD associated liver disease constitute a histologically and clinically heterogeneous group. The pathogenesis of the disease still remains to be elucidated. Recent experimental evidence produced in the transgenic mouse model is in favour of the engorgement hypothesis considering the deposition of amorphous A1AT in the hepatocytes the prime event causing liver disease. This theory, however, fails to explain the clinical observation of the presence of a number of other factors known to cause chronic liver disease in A1ATD patients. The latter observation is in support of the deficiency theory, which explains the pathogenesis of emphysema of the lung, and would point to A1ATD as a predisposition to acquire chronic disease. The meaning of the increased synthesis of stress proteins in patients with liver disease is still speculative.
α-1抗胰蛋白酶缺乏症（A1ATD）是最常见的致死性遗传性疾病之一。普通人群中约5%至10%携带会引发肝病或肺气肿的“风险”基因。A1ATD相关肝病患者在组织学和临床上构成了一个异质性群体。该疾病的发病机制仍有待阐明。近期在转基因小鼠模型中产生的实验证据支持充血假说，该假说认为无定形A1AT在肝细胞中的沉积是导致肝病的主要事件。然而，这一理论无法解释临床观察中已知会在A1ATD患者中引发慢性肝病的许多其他因素的存在。后一观察结果支持缺陷理论，该理论解释了肺气肿的发病机制，并表明A1ATD是易患慢性疾病的一种倾向。肝病患者中应激蛋白合成增加的意义仍具有推测性。
